title: Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
abstract: OBJECTIVE
  To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts.
  
  
  METHODS
  One hundred and forty-five sporadic age-related cataract patients and one hundred and fifty-six unrelated random healthy controls participated in this study. Genomic DNA was extracted from peripheral blood leukocytes. All exons of GJA3, GJA8, and LIM2 were sequenced after being amplified by polymerase chain reaction (PCR). The functional consequences of the mutations were analyzed using PolyPhen.
  
  
  RESULTS
  We found five novel variations in 145 patients and none of them presented in the 156 controls. There are two variations in GJA3 (c.-39C>G, c. 415G>A); one in GJA8 (c. 823G>A), and two in LIM2 (c.57G>A, c.67A>C). PolyPhen predicted that the LIM2 c.67A>C mutation may have potential pathogenicity.
  
  
  CONCLUSIONS
  The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. This study showed a potential relationship between lens fiber cell membrane protein genes and the development of age-related cataracts in the Chinese population.
authors.affiliation: Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Shanshan
authors.initials: S
authors.lastname: Hu
authors.forename: Chunmei
authors.initials: C
authors.lastname: Zhang
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
mesh_terms: D000375:Aging / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D002681:China; D019295:Computational Biology; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D013045:Species Specificity; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D008565:Membrane Proteins; D000099264:Connexin 50; C044539:LIM2 protein, human; C082917:GJA3 protein, human